Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 699298009
SNOMED CT code
| SNOMED code | 699298009 |
|---|---|
| name | Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant |
| status | active |
| date introduced | 2014-01-31 |
| fully specified name(s) | Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder) |
| synonyms |
|
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Digit structure 82680008 |
| Associated morphology | Supernumerary structure 91431006 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Deformity 6081001 |
| Occurrence | Congenital 255399007 |
| Finding site | Eyelid structure 80243003 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Narrowed structure 25659002 |
| Finding site | Structure of palpebral fissure 595000 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Thyroid structure 69748006 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 699298009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital hypothyroidism 190268003 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 699298009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 699298009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of endocrine system 362969004 Hereditary disorder of endocrine system 363104002 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 699298009 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 699298009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Disorder of digit 128597007 Congenital anomaly of digit 403855001 Polydactyly 367506006 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 699298009 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Deformity of eyelid 430960001 Blepharophimosis, intellectual disability syndrome 788584007 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 699298009 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
Thank you for choosing Find-A-Code, please Sign In to remove ads.
Quick, Current, Complete - www.findacode.com